| Symbol |
Name |
|
ABCC9
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
ARHGAP31
|
Rho GTPase activating protein 31
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
BBIP1
|
BBSome interacting protein 1
|
|
BBS1
|
Bardet-Biedl syndrome 1
|
|
BBS10
|
Bardet-Biedl syndrome 10
|
|
BBS12
|
Bardet-Biedl syndrome 12
|
|
BBS2
|
Bardet-Biedl syndrome 2
|
|
BBS4
|
Bardet-Biedl syndrome 4
|
|
BBS5
|
Bardet-Biedl syndrome 5
|
|
BBS7
|
Bardet-Biedl syndrome 7
|
|
BBS9
|
Bardet-Biedl syndrome 9
|
|
BCOR
|
BCL6 corepressor
|
|
BHLHA9
|
basic helix-loop-helix family, member a9
|
|
BLM
|
Bloom syndrome, RecQ helicase-like
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
BTRC
|
beta-transducin repeat containing E3 ubiquitin protein ligase
|
|
CCBE1
|
collagen and calcium binding EGF domains 1
|
|
CCDC22
|
coiled-coil domain containing 22
|
|
CDH3
|
cadherin 3, type 1, P-cadherin (placental)
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CHRNG
|
cholinergic receptor, nicotinic, gamma (muscle)
|
|
COL7A1
|
collagen, type VII, alpha 1
|
|
CTNND2
|
catenin (cadherin-associated protein), delta 2
|
|
DCHS1
|
dachsous cadherin-related 1
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DHODH
|
dihydroorotate dehydrogenase (quinone)
|
|
DLL3
|
delta-like 3 (Drosophila)
|
|
DLX5
|
distal-less homeobox 5
|
|
DOCK6
|
dedicator of cytokinesis 6
|
|
EFNB1
|
ephrin-B1
|
|
EOGT
|
EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ERF
|
Ets2 repressor factor
|
|
ESCO2
|
establishment of sister chromatid cohesion N-acetyltransferase 2
|
|
EZH2
|
enhancer of zeste 2 polycomb repressive complex 2 subunit
|
|
FANCA
|
Fanconi anemia, complementation group A
|
|
FANCB
|
Fanconi anemia, complementation group B
|
|
FANCC
|
Fanconi anemia, complementation group C
|
|
FANCD2
|
Fanconi anemia, complementation group D2
|
|
FANCE
|
Fanconi anemia, complementation group E
|
|
FANCF
|
Fanconi anemia, complementation group F
|
|
FANCG
|
Fanconi anemia, complementation group G
|
|
FANCI
|
Fanconi anemia, complementation group I
|
|
FANCL
|
Fanconi anemia, complementation group L
|
|
FANCM
|
Fanconi anemia, complementation group M
|
|
FAT4
|
FAT atypical cadherin 4
|
|
FBXW4
|
F-box and WD repeat domain containing 4
|
|
FERMT1
|
fermitin family member 1
|
|
FGD1
|
FYVE, RhoGEF and PH domain containing 1
|
|
FGF10
|
fibroblast growth factor 10
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FLNB
|
filamin B, beta
|
|
FNBP4
|
formin binding protein 4
|
|
FRAS1
|
Fraser extracellular matrix complex subunit 1
|
|
FREM2
|
FRAS1 related extracellular matrix protein 2
|
|
GDF5
|
growth differentiation factor 5
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
|
GLI3
|
GLI family zinc finger 3
|
|
GPC3
|
glypican 3
|
|
GPC4
|
glypican 4
|
|
GRIP1
|
glutamate receptor interacting protein 1
|
|
HDAC4
|
histone deacetylase 4
|
|
HES7
|
hes family bHLH transcription factor 7
|
|
HOXA11
|
homeobox A11
|
|
HOXD13
|
homeobox D13
|
|
IFT122
|
intraflagellar transport 122
|
|
IFT27
|
intraflagellar transport 27
|
|
IFT43
|
intraflagellar transport 43
|
|
IKBKG
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
|
|
IRF6
|
interferon regulatory factor 6
|
|
KCNJ8
|
potassium channel, inwardly rectifying subfamily J, member 8
|
|
KCTD1
|
potassium channel tetramerization domain containing 1
|
|
KIAA0196
|
KIAA0196
|
|
KIF1BP
|
KIF1 binding protein
|
|
KIF7
|
kinesin family member 7
|
|
LAMA3
|
laminin, alpha 3
|
|
LAMB3
|
laminin, beta 3
|
|
LAMC2
|
laminin, gamma 2
|
|
LFNG
|
LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
|
|
LMBR1
|
limb development membrane protein 1
|
|
LRP4
|
low density lipoprotein receptor-related protein 4
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MEGF8
|
multiple EGF-like-domains 8
|
|
MESP2
|
mesoderm posterior basic helix-loop-helix transcription factor 2
|
|
MIPOL1
|
mirror-image polydactyly 1
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MMP1
|
matrix metallopeptidase 1
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NOG
|
noggin
|
|
NOTCH1
|
notch 1
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
ORC1
|
origin recognition complex, subunit 1
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PAX3
|
paired box 3
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PITX1
|
paired-like homeodomain 1
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
PTCH1
|
patched 1
|
|
PTDSS1
|
phosphatidylserine synthase 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PVRL1
|
poliovirus receptor-related 1 (herpesvirus entry mediator C)
|
|
PVRL4
|
poliovirus receptor-related 4
|
|
RAD51C
|
RAD51 paralog C
|
|
RB1
|
retinoblastoma 1
|
|
RBM8A
|
RNA binding motif protein 8A
|
|
RBPJ
|
recombination signal binding protein for immunoglobulin kappa J region
|
|
RIPK4
|
receptor-interacting serine-threonine kinase 4
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
SALL1
|
spalt-like transcription factor 1
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SDCCAG8
|
serologically defined colon cancer antigen 8
|
|
SEMA5A
|
sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
|
|
SHFM1
|
split hand/foot malformation (ectrodactyly) type 1
|
|
SHH
|
sonic hedgehog
|
|
SIX6
|
SIX homeobox 6
|
|
SLURP1
|
secreted LY6/PLAUR domain containing 1
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SMOC1
|
SPARC related modular calcium binding 1
|
|
SOST
|
sclerostin
|
|
TBX5
|
T-box 5
|
|
TCTN3
|
tectonic family member 3
|
|
TP63
|
tumor protein p63
|
|
TRIM32
|
tripartite motif containing 32
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TWIST1
|
twist family bHLH transcription factor 1
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WDR19
|
WD repeat domain 19
|
|
WDR35
|
WD repeat domain 35
|
|
WNT10B
|
wingless-type MMTV integration site family, member 10B
|
|
WNT5A
|
wingless-type MMTV integration site family, member 5A
|
|
WNT7A
|
wingless-type MMTV integration site family, member 7A
|
